Gene
plcb1l
- ID
- ZDB-GENE-121210-1
- Name
- phospholipase C beta 1-like
- Symbol
- plcb1l Nomenclature History
- Previous Names
-
- plcb1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in Alzheimer's disease; developmental and epileptic encephalopathy 12; and myelodysplastic syndrome. Orthologous to human PLCB1 (phospholipase C beta 1).
- Genome Resources
-
- Alliance (1)
- Gene:100149080 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Griffin et al., 2021
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 12 | Alliance | Developmental and epileptic encephalopathy 12 | 613722 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000008 | C2 domain |
| Domain | IPR000909 | Phosphatidylinositol-specific phospholipase C, X domain |
| Domain | IPR014815 | Phospholipase C-beta, C-terminal domain |
| Domain | IPR037862 | PLC-beta, PH domain |
| Domain | IPR053945 | Phosphoinositide phospholipase C beta 1-4-like, EF-hand domain |
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Domain Details Per Protein
| Protein | Additional Resources | Length | C2 domain | C2 domain superfamily | EF-hand domain pair | Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase beta | Phosphatidylinositol-specific phospholipase C, X domain | Phosphoinositide phospholipase C beta 1-4-like, EF-hand domain | Phosphoinositide phospholipase C family | Phospholipase C-beta, C-terminal domain | Phospholipase C-beta, C-terminal domain superfamily | PLC-beta, PH domain | PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0AB32TCL4 | InterPro | 912 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- Zhang, J., Chandrasekaran, G., Li, W., Kim, D.Y., Jeong, I.Y., Lee, S.H., Liang, T., Bae, J.Y., Choi, I., Kang, H., Maeng, J.S., Kim, M.K., Lee, T., Park, S.W., Kim, M.J., Kim, H.S., Ro, H., Bae, Y.C., Park, H.C., Choi, E.Y., Choi, S.Y. (2020) Wnt-PLC-IP3-Connexin-Ca2+ axis maintains ependymal motile cilia in zebrafish spinal cord. Nature communications. 11:1860
- Ferreira, T., Wilson, S.R., Choi, Y.G., Risso, D., Dudoit, S., Speed, T.P., Ngai, J. (2014) Silencing of Odorant Receptor Genes by G Protein βγ Signaling Ensures the Expression of One Odorant Receptor per Olfactory Sensory Neuron. Neuron. 81(4):847-59
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